Canonical Allele Identifier: CA9138575

Gene: MCOLN1

Linked Data

• dbSNP Id: rs781317208
• ExAC: 19:7589810 C / T
• gnomAD v2: 19-7589810-C-T
• gnomAD v4: 19-7524924-C-T
• MyVariant Identifiers: chr19:g.7589810C>T (hg19) ; chr19:g.7524924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524924C>T , CM000681.2:g.7524924C>T	GRCh38
NC_000019.9:g.7589810C>T , CM000681.1:g.7589810C>T	GRCh37
NC_000019.8:g.7495810C>T	NCBI36
NG_015806.1:g.7315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-37C>T MANE Select	ENSP00000264079.5:n.32-37C>T
ENST00000264079.10:c.32-37C>T	ENSP00000264079.5:n.32-37C>T
ENST00000394321.9:n.112-37C>T
ENST00000596390.1:n.148-37C>T
ENST00000601003.1:c.32-37C>T	ENSP00000469074.1:n.32-37C>T
NM_020533.2:c.32-37C>T	NP_065394.1:n.32-37C>T
XR_936293.1:n.31G>A
XR_936294.1:n.31G>A
XR_936295.1:n.31G>A
XR_936293.2:n.57G>A
XR_936294.2:n.57G>A
NM_020533.3:c.32-37C>T MANE Select	NP_065394.1:n.32-37C>T